Nephronophthisis
INFORMATION FOR HEALTH PROFESSIONALS

 

Nephronophthisis (NPHP) is an autosomal recessive condition that affects the cilia and leads to inflammation and fibrosis in the kidneys and impaired kidney function.

 

Link to Gene Reviews or Guidelines

 

Further Information

  • Srivastava S. et al. (2017). Many Genes – One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Frontiers in Pediatrics 5; 287.

 

More detailed Information for Health Professionals will be available on the ARRK website in the near future.

If you would like to form or be part of a Disease Specific Research Group (DSRG) for Nephronophthisis, please contact the ARRK registry (arrkregistry1@gmail.com) or Dr Hugh McCarthy (hugh.mccarthy@health.nsw.gov.au).

 

The resources on this page provide information for healthcare professionals. If you have questions about a medical condition or health related issue, please consult your medical doctor or a healthcare professional.

 

This page was last updated on 24th Oct, 2018.